Entity Name	Entity type	Gene Symbol	Sources(; separated)	Level4	Level3	Level2	Model_Of_Inheritance	Phenotypes	Omim	Orphanet	HPO	Publications	Description	Flagged	GEL_Status	UserRatings_Green_amber_red	version	ready	Mode of pathogenicity	EnsemblId(GRch37)	EnsemblId(GRch38)	HGNC	Position Chromosome	Position GRCh37 Start	Position GRCh37 End	Position GRCh38 Start	Position GRCh38 End	STR Repeated Sequence	STR Normal Repeats	STR Pathogenic Repeats	Region Haploinsufficiency Score	Region Triplosensitivity Score	Region Required Overlap Percentage	Region Variant Type	Region Verbose Name
ANO1	gene	ANO1	Expert Review Amber;Literature	Infantile enterocolitis & monogenic inflammatory bowel disease	Gastrointestinal disorders	Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Impaired intestinal peristalsis;Haemorrhagic diarrhoea;Dysmorphic features				32487539		False	2	0;100;0	1.45	False		ENSG00000131620	ENSG00000131620	HGNC:21625													
COL7A1	gene	COL7A1	Expert list;Expert Review Amber	Infantile enterocolitis & monogenic inflammatory bowel disease	Gastrointestinal disorders	Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Dystrophic epidermolysis bullosa				27537055;11781296;32084423		False	2	50;0;50	1.45	False		ENSG00000114270	ENSG00000114270	HGNC:2214													
DKC1	gene	DKC1	Expert list;Expert Review Amber	Infantile enterocolitis & monogenic inflammatory bowel disease	Gastrointestinal disorders	Gastroenterological disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Hoyeraal Hreidarsson Syndrome;Dyskeratosis congenita, X-linked						False	2	100;0;0	1.45	False		ENSG00000130826	ENSG00000130826	HGNC:2890													
IL10	gene	IL10	Eligibility statement prior genetic testing;Expert list;Expert Review Amber;UKGTN	Infantile enterocolitis & monogenic inflammatory bowel disease	Gastrointestinal disorders	Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	IL-10 signalling defects / deficiency; IL10-Related Inflammatory Bowel Disease				27302973		False	2	100;0;0	1.45	False		ENSG00000136634	ENSG00000136634	HGNC:5962													
IL21	gene	IL21	Expert list;Expert Review Amber	Infantile enterocolitis & monogenic inflammatory bowel disease	Gastrointestinal disorders	Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	IL21 deficiency (Combined variable immunodeficiency-like);severe diarrhea and inflammatory bowel disease;Early-onset inflammatory bowel disease				"24746753 - family report;26681227 - evidence in rats with inflammatory bowel disease of the role of IL21;26648777 - elevated IL21 expression in CD3+ CD8+ T cells from patients with Ulcerative colitis compared to controls;25371082 - IL 21KO mice were largely protected against colitis;PMID: 25162763 ""IL-21 is overproduced in many chronic inflammatory disorders, including inflammatory bowel diseases, psoriasis, rheumatoid arthritis, type I diabetes and systemic lupus erythematosus, and studies in experimental models indicate that IL-21 plays an important role in sustaining tissue-damaging immune responses in such pathologies. However, genetic deficiency of IL-21 associates with inflammatory bowel diseases and blockade of IL-21 in the early phases exacerbates the disease progression in some models of rheumatoid arthritis and systemic lupus erythematosus, thus suggesting a dual role of IL-21 in the control of immune-mediated diseases."";PMID: 25037274;PMID: 24796415"		False	2	100;0;0	1.45	False		ENSG00000138684	ENSG00000138684	HGNC:6005													
NPC1	gene	NPC1	Expert list;Expert Review Amber	Infantile enterocolitis & monogenic inflammatory bowel disease	Gastrointestinal disorders	Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Niemann_Pick type C disease;Niemann-Pick disease, type D						False	2	100;0;0	1.45	False		ENSG00000141458	ENSG00000141458	HGNC:7897													
PI4KA	gene	PI4KA	Expert Review Amber	Infantile enterocolitis & monogenic inflammatory bowel disease	Gastrointestinal disorders	Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531				25855803;34415322;34415310		False	2	0;100;0	1.45	False		ENSG00000241973	ENSG00000241973	HGNC:8983													
PIK3R1	gene	PIK3R1	Expert list;Expert Review Amber	Infantile enterocolitis & monogenic inflammatory bowel disease	Gastrointestinal disorders	Gastroenterological disorders	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Agammaglobulinemia 7, autosomal recessive 615214				22351933		False	2	50;0;50	1.45	False		ENSG00000145675	ENSG00000145675	HGNC:8979													
PLCG2	gene	PLCG2	Expert list;Expert Review Amber;Radboud University Medical Center, Nijmegen;UKGTN	Infantile enterocolitis & monogenic inflammatory bowel disease	Gastrointestinal disorders	Gastroenterological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Autoinflammation, antibody deficiency, and immune dysregulation syndrome, OMIM:614878				23000145;22236196		False	2	50;0;50	1.45	False		ENSG00000197943	ENSG00000197943	HGNC:9066													
PTEN	gene	PTEN	Emory Genetics Laboratory;Expert list;Expert Review Amber;Radboud University Medical Center, Nijmegen;UKGTN	Infantile enterocolitis & monogenic inflammatory bowel disease	Gastrointestinal disorders	Gastroenterological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	"PTEN hamartoma tumor syndrome;Bannayan-Riley-Ruvalcaba syndrome	153480"				23962154;24882466;25352295;22266152		False	2	33;67;0	1.45	False		ENSG00000171862	ENSG00000171862	HGNC:9588													
ZAP70	gene	ZAP70	Emory Genetics Laboratory;Expert list;Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Infantile enterocolitis & monogenic inflammatory bowel disease	Gastrointestinal disorders	Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	"SCID;Autoimmune disease, multisystem, infantile-onset, 2	617006"				26783323;23406209 (association with Crohn's disease in adults);evidence for a role in autoimmune disease if ZAP70 is disregulated 27571017 and 26903241;PMID: 27288531 hypomorphic mutant allele of ZAP70 in SKG mouse model, which, upon exposure to fungal Ags, predisposes the mice to a CD4(+) T cell-mediated autoimmune arthritis that closely resembles rheumatoid arthritis in humans		False	2	50;0;50	1.45	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000115085	ENSG00000115085	HGNC:12858